Search Ontology:
Human Disease
Laurin-Sandrow syndrome
- Term ID
- DOID:0111350
- Synonyms
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- miccor hands and feet with nasal defects
- MIPduplication of fibuland ulna with absence of tibia and radius
- mirror hands and feets-nasal defects syndrome
- mirror-image polydactyly
- Sandrow syndrome
- tetramelic mirror-image polydactyly
- TMIP
- Definition
- A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (2)
- References
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- GARD:155
- MESH:C535689
- MIM:135750
- ORDO:2378
- SNOMEDCT_US_2023_03_01:715440003
- UMLS_CUI:C1851100
- Ontology
- Human Disease ( DOID:0111350 )
- is a type of
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Genes Involved
Zebrafish Models